Grubben-de Cock-Borghgraef syndrome

Also known as: Developmental delay-hypotonia-extremities hypertrophy syndrome

Definition

Orphanet

Grubben-de Cock-Borghgraef syndrome is a rare intellectual disability syndrome characterized by pre- and postnatal growth deficiency, generalized muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely-spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency have also been reported in some patients.

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Symptoms

Medical Term Other Names Description
Partial agenesis of the corpus callosum Corpus callosum agenesis, partial, Partial-total agenesis of corpus callosum, Partial or complete agenesis of corpus callosum, Partial to complete agenesis of corpus callosum, Partial or complete agenesis of the corpus callosum [more] A partial failure of the development of the corpus callosum.
Muscular hypotonia Muscle hypotonia, Low or weak muscle tone Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching.
Abnormality of the dentition Dental anomalies, Abnormality of the teeth, Dental problems, Abnormal dentition, Tooth abnormalities, Abnormal teeth [more] Any abnormality of the teeth.
Growth delay Growth deficiency, Delayed growth, Growth retardation, Growth failure, Retarded growth, Very poor growth [more] A deficiency or slowing down of growth pre- and postnatally.
Widely spaced teeth Generalized dental spacing, Generalized spacing of teeth, Wide-spaced teeth, Multiple diastemata [more] Increased spaces (diastemata) between most of the teeth in the same dental arch.
Postnatal growth retardation Postnatal growth failure, Growth delay as children, Postnatal growth deficiency, Postnatal growth deceleration, Growth retardation as children [more] Slow or limited growth after birth.
Global developmental delay Psychomotor developmental delay, Psychomotor retardation, Developmental delay, Lack of psychomotor development, Cognitive delay, Delayed intellectual development, Delayed milestones, Psychomotor development deficiency, Developmental retardation, Motor and developmental delay, Developmental delay in early childhood, Retarded psychomotor development, Retarded mental development, Delayed cognitive development, Retarded development, Delayed developmental milestones, Delayed development, Psychomotor development failure, Mental and motor retardation, Psychomotor delay, Delayed psychomotor development [more] A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Intellectual disability Nonprogressive intellectual disability, Poor school performance, Mental-retardation, Dull intelligence, Nonprogressive mental retardation, Mental deficiency, Mental retardation, nonspecific, Low intelligence [more] Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Agenesis of corpus callosum Agenesis of the corpus callosum, Dysplastic or absent corpus callosum, Absence of corpus callosum, Absent corpus callosum, Callosal agenesis [more] Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline.
Generalized hypotonia Generalized muscular hypotonia, Decreased muscle tone, Low muscle tone, Hypotonia [more] Generalized muscular hypotonia (abnormally low muscle tone).

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